R44P (p.Arg44Pro) variant of IAPP (Islet amyloid polypeptide)
R44P (p.Arg44Pro) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R44P (p.Arg44Pro) variant details
- p.Arg44Pro
- gnomAD 12-21378287-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.35
- CADD 26.50
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available